RBCC Red Blood Cell Collection

KELL_HUMAN

Source: hRBCD ; ID: IPI00220459
PM19886704
PM23856902
BGMUT ; ID: kell
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)
Gene names: KEL
Protein names and data: KELL_HUMAN , Kell blood group glycoprotein; 3.4.24.- , CD238 Lenght: 732 a.a.
Mass: 82824 Da
fasta formatted sequence
Function: Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3.
Cellular location: Cell membrane; Single-pass type II membrane protein. Note=Spans the erythrocyte membrane, and is attached to the underlying cytoskeleton.
Tissue specificity: Expressed at high levels in erythrocytes and testis (in Sertoli cells), and, at lower levels, in skeletal muscle, tonsils (in follicular dendritic cells), lymph node, spleen and appendix (at protein level). Also expressed in many adult and fetal nonerythroid tissues, including brain, spleen, lymph nodes and bone marrow.

Genetic variants

KEL is responsible for the Kell blood group system. The molecular basis of the K=KEL1/k=KEL2 blood group antigens is a single variation in position 193; Thr-193 corresponds to KEL2 and Met-193 to KEL1. The molecular basis of the Kpa=KEL3/Kpb=KEL4/Kpc=KEL21 blood group antigens is a single variation in position 281; Arg-281 corresponds to KEL4, Trp-281 to KEL3 and Gln-281 to KEL21. The molecular basis of the Jsa=KEL6/Jsb=KEL7 blood group antigens is a single variation in position 597; Leu-597 corresponds to KEL7 and Pro-597 to KEL6. The molecular basis of the KEL11/KEL17 blood group antigens is a single variation in position 302; Val-302 corresponds to KEL11 and Ala-302 to KEL17. The molecular basis of the KEL14/KEL24 blood group antigens is a single variation in position 180; Arg-180 corresponds to KEL14 and Pro-180 to KEL24.

163 - 163 A -> T (in dbSNP:rs8175974). VAR_016265 8175974
180 - 180 R -> P (in KEL24 antigen). VAR_006731
193 - 193 T -> M (in KEL1/K antigen; dbSNP:rs8176058). VAR_006732 8176058
248 - 248 R -> Q (in KEL25 antigen). VAR_015120
249 - 249 E -> K (in KEL27 antigen). VAR_015121
281 - 281 R -> Q (in KEL21/Kp(c) antigen). VAR_006734
281 - 281 R -> W (in KEL3/Kp(a) antigen; dbSNP:rs8176059). VAR_006733 8176059
302 - 302 V -> A (in KEL17 antigen; dbSNP:rs61729034). VAR_006735 61729034
322 - 322 A -> V (in KEL22 antigen). VAR_015122
382 - 382 Q -> R (in KEL23 antigen). VAR_015123
406 - 406 R -> Q (in KEL26 antigen). VAR_015124
492 - 492 R -> Q (in KEL19 antigen; dbSNP:rs61729035). VAR_015125 61729035
494 - 494 E -> V (in KEL10/Ul(a) antigen; dbSNP:rs61729032). VAR_006736 61729032
548 - 548 H -> R (in KEL12 antigen). VAR_015126
597 - 597 L -> P (in KEL6/Js(a) antigen; dbSNP:rs8176038). VAR_006737 8176038
726 - 726 S -> A (in dbSNP:rs8176048). VAR_016266 8176048

Database cross-references

UniProt: P23276
Ensembl: ENST00000355265
Ensembl: ENST00000561891
MIM: 110900
MIM: 613883
neXtProt: NX_P23276
Antibodypedia: P23276 (may not find the protein thus also not any antibody)
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